Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study

Autor:	Manju Ghosh, Eric Smeets, Sheffali Gulati, Leopold M. G. Curfs, Kees E. P. van Roozendaal, Neerja Gupta, Madhulika Kabra, Rajni Khajuria, Savita Sapra
Rok vydání:	2020
Předmět:	Genetics medicine Rett syndrome Biology medicine.disease Genotype-Phenotype Correlations DNA sequencing MECP2 Large cohort
Zdroj:	Journal of Translational Genetics and Genomics.
DOI:	10.20517/jtgg.2020.06
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::52c36f529f5214467a43577b1fa1333b https://doi.org/10.20517/jtgg.2020.06 Zobrazit plný text záznamu